TABLE 1.

Miller syndrome‐related variants in the DHODH gene (cited from HGMD database, in order of genomic position).

No.	Genomic coordinates	Reference base(s)	Variant base (s)	HGVS description (NM_001361.5)	Protein alteration	Reference (PMID)
1	chr16:72045983‐72045983	G	A	c.56G > A	p.G19E	19915526
2	chr16:72046010‐72046010	T	C	c.83 T > C	p.L28P	21851494
3	chr16:72046055‐72046055	C	T	c.128C > T	p.P43L	33262786
4	chr16:72046082‐72046082	A	G	c.155A > G	p.E52G	22692683
5	chr16:72046089‐72046091	CCA	C	c.165_166del	p.H55Efs*21	27370710
6	chr16:72048381‐72048395	GTTCTGGGCCATAAA	G	c.248_261del	p.L83Pfs*11	31980526
7	chr16:72048540‐72048540	C	T	c.403C > T	p.R135C	19915526
8	chr16:72050942‐72050942	G	A	c.454G > A	p.G152R	19915526
9	chr16:72055100‐72055100	C	T	c.595C > T	p.R199C	19915526
10	chr16:72055110‐72055110	G	GC	c.610dupC	p.L204Pfs*55	27219052
11	chr16:72055110‐72055110	G	A	c.605G > A	p.G202D	19915526
12	chr16:72055110‐72055110	G	C	c.605G > C	p.G202A	19915526
13	chr16:72055115‐72055116	CT	C	c.611delT	p.L204Rfs*7	19915526
14	chr16:72056285‐72056285	C	T	c.730C > T	p.R244W	19915526
15	chr16:72057095‐72057095	C	T	c.851C > T	p.T284I	19915526
16	chr16:72057169‐72057169	C	T	c.925C > T	p.R309W	27370710
17	chr16:72057375‐72057375	C	T	c.976C > T	p.R326*	22692683
18	chr16:72057435‐72057435	C	T	c.1036C > T	p.R346W	19915526
19	chr16:72057438‐72057438	G	A	c.1039G > A	p.A347T	21851494
20	chr16:72057468‐72057468	G	A	c.1069G > A	p.A357T	22692683
21	chr16:72058085‐72058085	A	G	c.1175A > G	p.D392G	19915526
22	chr16:?‐?	Uncertain	del	exon(1‐3)del	Null	This study
23	chr16:72056379‐72056379	G	A	c.819 + 5G > A	p.236_264del?	This study

Note: DHODH gene: NM_001361.5.

Abbreviations: HGMD, The Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php); HGVS, Human Genome Variation Society (http://www.hgvs.org/); PMID, PubMed reference ID (https://pubmed.ncbi.nlm.nih.gov/).